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Giulio Piluso
Giulio Piluso
Dip. di Medicina di Precisione, UniversitÓ degli Studi della Campania "Luigi
Verified email at unicampania.it
Title
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Cited by
Year
Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene
V Nigro, ES Moreira, G Piluso, M Vainzof, A Belsito, L Politano, AA Puca, ...
Nature genetics 14 (2), 195-198, 1996
5481996
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients
L Passamano, A Taglia, A Palladino, E Viggiano, P D'ambrosio, ...
Acta Myologica 31 (2), 121, 2012
4512012
Identification of the Syrian hamster cardiomyopathy gene
V Nigro, Y Okazaki, A Belsito, G Piluso, Y Matsuda, L Politano, G Nigro, ...
Human molecular genetics 6 (4), 601-607, 1997
3211997
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results.
L Politano, G Nigro, V Nigro, G Piluso, S Papparella, O Paciello, LI Comi
Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of theá…, 2003
2582003
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
V Nigro, G Piluso, A Belsito, L Politano, AA Puca, S Papparella, E Rossi, ...
Human molecular genetics 5 (8), 1179-1186, 1996
2311996
γ1-and γ2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells
G Piluso, M Mirabella, E Ricci, A Belsito, C Abbondanza, S Servidei, ...
Journal of Biological Chemistry 275 (21), 15851-15860, 2000
1652000
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell
C Abbondanza, V Rossi, A Roscigno, L Gallo, A Belsito, G Piluso, ...
The Journal of cell biology 141 (6), 1301-1310, 1998
1321998
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
M Fanin, L Fulizio, AC Nascimbeni, M Spinazzi, G Piluso, VM Ventriglia, ...
Human mutation 24 (1), 52-62, 2004
1292004
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
G Piluso, L Politano, S Aurino, M Fanin, E Ricci, VM Ventriglia, A Belsito, ...
Journal of Medical Genetics 42 (9), 686-693, 2005
1232005
Mutations that impair interaction properties of TRIM32 associated with limb‐girdle muscular dystrophy 2H
V Saccone, M Palmieri, L Passamano, G Piluso, G Meroni, L Politano, ...
Human mutation 29 (2), 240-247, 2008
1192008
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study iná…
M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ...
Human mutation 41 (1), 299-315, 2020
1142020
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ...
Neurology 87 (1), 71-76, 2016
1102016
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches
V Nigro, S Aurino, G Piluso
Current opinion in neurology 24 (5), 429-436, 2011
1062011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
M Cacciottolo, G Numitone, S Aurino, IR Caserta, M Fanin, L Politano, ...
European journal of human genetics 19 (9), 974-980, 2011
1012011
A missense mutation in CASK causes FG syndrome in an Italian family
G Piluso, F D'Amico, V Saccone, E Bismuto, IL Rotundo, M Di Domenico, ...
The American Journal of Human Genetics 84 (2), 162-177, 2009
992009
Lack of replication of genetic associations with human longevity
V Novelli, C Viviani Anselmi, R Roncarati, G Guffanti, A Malovini, G Piluso, ...
Biogerontology 9, 85-92, 2008
942008
Molecular and muscle pathology in a series of caveolinopathy patients
L Fulizio, A Chiara Nascimbeni, M Fanin, G Piluso, L Politano, V Nigro, ...
Human mutation 25 (1), 82-89, 2005
912005
The retinoblastoma-interacting zinc-finger protein RIZ is a downstream effector of estrogen action
C Abbondanza, N Medici, V Nigro, V Rossi, L Gallo, G Piluso, A Belsito, ...
Proceedings of the National Academy of Sciences 97 (7), 3130-3135, 2000
902000
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F
A Torella, M Fanin, M Mutarelli, E Peterle, F Del Vecchio Blanco, R Rispoli, ...
PloS one 8 (5), e63536, 2013
812013
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R SchŘle, M Synofzik, A T÷pf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
742021
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